Atul Singh Rajput

Atul Singh Rajput
Mahatma Gandhi Institute of Medical Sciences,
Wardha, Maharashtra
India

Publications
  • Case Report
    Suspected Wilson's Disease Presenting with Normal Serum Ceruloplasmin Levels
    Author(s): Atul Singh Rajput, Gunjan Singh Dalal and Jyoti JainAtul Singh Rajput, Gunjan Singh Dalal and Jyoti Jain

    Wilson’s disease, also known as ‘Hepatolenticular degeneration’ is a disorder of copper handling. The clinical picture parallels the pathophysiology with symptoms of basal ganglia (10 to 100%), cerebellar dysfunction (18 to 73%) and liver dysfunction (18 to 84%). The patient profile usually describes a young male or female with signs of cerebellar dysfunction (Ataxia, Dysarthria and Nystagmus), basal ganglia dysfunction (Choreoathetosis), Kayser Fleisher (KF) rings in cornea and hepatic involvement (any form of acute or chronic liver disease). The basic pathophysiology relates to improper handling of copper by the liver owing to the dysfunctional ATP7B gene. The diagnostic tests include an increased urinary copper excretion (100 ug/dl), reduced serum ceruloplasmin levels (< 25 mg/dl) and increased hepatic copper concentration (> 200.. View More»
    DOI: 10.4172/0974-8369.1000362

    Abstract PDF